The Experts below are selected from a list of 2412 Experts worldwide ranked by ideXlab platform
Jane A Evans - One of the best experts on this subject based on the ideXlab platform.
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pregnancy outcome in women assigned an icd 9 icd 9 cm 655 0 code central Nervous System Malformation in fetus affecting management of pregnancy can these codes aid in surveillance for central Nervous System defects
Birth Defects Research Part A-clinical and Molecular Teratology, 2014Co-Authors: Jane A EvansAbstract:Background The difficulty many birth defects registries have in identifying early pregnancy terminations can lead to significant underreporting of certain types of Malformations. This study was designed to determine the potential benefit of using maternal ICD-9 codes relating to management of pregnancy due to fetal anomaly in surveillance of central Nervous System (CNS) defects (655.0). Methods Women assigned the ICD-9/ICD-9-CM (henceforth termed ICD-9) code 655.0 between 1990 and 2000 were ascertained from two administrative health databases in Manitoba, Canada, one relating to maternal serum screening and one based on hospital discharges. Information was collected on the type of CNS defect identified and whether it was isolated or associated with other anomalies. The relationship of these variables to pregnancy outcome and its potential impact on surveillance for these types of defects was explored. Results Neural tube defects were the most common finding (67%) identified in the fetuses/infants of women assigned code 655.0, followed by hydrocephaly (20%) and Dandy-Walker anomaly (6%), but the proportion of neural tube defect cases declined after food fortification with folic acid. Termination of pregnancy occurred in ∼50% of neural tube defect cases, 18% before 20 weeks of gestation, but was rare for other CNS defects. Conclusion The maternal ICD-9 code 655.0 had a very high (97%) positive predictive value for identifying fetuses with a CNS defect; 655.00 was particularly effective in identifying neural tube defects pregnancies terminated before 20 weeks gestation that would be difficult to ascertain, especially by passive surveillance Systems using infant related data alone. Birth Defects Research (Part A) 100:848–851, 2014. © 2014 Wiley Periodicals, Inc.
J P Fryns - One of the best experts on this subject based on the ideXlab platform.
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hypohidrotic ectodermal dysplasia central Nervous System Malformation and distinct facial features confirmation of a distinct entity
Journal of Medical Genetics, 1993Co-Authors: D Soekarman, J P FrynsAbstract:Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS Malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.
D Soekarman - One of the best experts on this subject based on the ideXlab platform.
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hypohidrotic ectodermal dysplasia central Nervous System Malformation and distinct facial features confirmation of a distinct entity
Journal of Medical Genetics, 1993Co-Authors: D Soekarman, J P FrynsAbstract:Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS Malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.
A S Knisely - One of the best experts on this subject based on the ideXlab platform.
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vps33b mutation with ichthyosis cholestasis and renal dysfunction but without arthrogryposis incomplete arc syndrome phenotype
The Journal of Pediatrics, 2006Co-Authors: Laura N Bull, Venus Mahmoodi, Alastair J Baker, Rosamond Jones, Sandra Strautnieks, Richard J Thompson, A S KniselyAbstract:Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multiSystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. Arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia define an ARC core phenotype, in some patients associated with ichthyosis, central Nervous System Malformation, deafness, and platelet abnormalities. We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis. The phenotypes associated with VPS33B mutation may include incomplete ARC.
Anthony Odibo - One of the best experts on this subject based on the ideXlab platform.
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evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central Nervous System Malformations
American Journal of Obstetrics and Gynecology, 2008Co-Authors: Katherine Goetzinger, David Stamilio, Jeffrey M Dicke, George A Macones, Anthony OdiboAbstract:Objective To determine the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central Nervous System Malformations on ultrasound. Study Design A database derived retrospective cohort study of all patients referred for ultrasound and genetic evaluation from 1990-2006. Fetal karyotypes were delineated by prenatal diagnosis or postnatal examination. The incidence and likelihood ratios were calculated for the association of each central Nervous System abnormality with trisomy 13, 18, and 21. Results Of 62,111 women included, 587 (0.9%) had major fetal central Nervous System abnormalities. The only central Nervous System anomalies associated with trisomy 21 were ventriculomegaly and choroid plexus cysts. When isolated, only spina bifida, holoprosencephaly, and agenesis of the corpus callosum were significantly associated with trisomy 13, anencephaly with trisomy 18, and ventriculomegaly with trisomy 21. Likelihood ratios positive range from 2-20 depending on the central Nervous System Malformation and aneuploidy type. Conclusion Central Nervous System Malformations detected on ultrasound are strongly associated with and predictive of chromosomal abnormalities, especially trisomy 13 and 18.
